Functional Vision in Patients With Biallelic USH2A Variants.
Am J Ophthalmol
; 260: 200-211, 2024 Apr.
Article
in En
| MEDLINE
| ID: mdl-38135239
ABSTRACT
PURPOSE:
To describe functional vision (FV) and investigate the relationship between FV, visual acuity (VA), and hill of vision (VTOT) at baseline in patients with biallelic USH2A variants.DESIGN:
Multicenter, international, cross-sectional study.METHODS:
In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations. The VALVVFQ-48 was administered verbally to participants ≥18 years old. VA was measured in both eyes; VTOT was determined from static perimetry in the study eye (better VA). FV scores were calculated using Rasch analysis.RESULTS:
Median age of 121 participants (76 with USH2, 45 with ARRP) was 41 years (range 19-80); 54% were female. FV scores varied from -2.0 to 7.6 logits (median [interquartile range (IQR)] 2.8 [1.5-3.8]). ARRP and USH2 participants had similar FV scores, both before [mean (95% CI) 2.8 (2.3-3.4) and 2.7 (2.3-3.2), respectively], and after [mean (95% CI) 2.5 (2.1-3.0) and 2.9 (2.6-3.3), respectively; P = .24] adjusting for age, VA, disease duration, and VTOT. VA and VTOT accounted for 29% and 26% of the variance in FV scores, respectively (P < .001 for each). Together, they accounted for 36% of variance observed.CONCLUSIONS:
Biallelic USH2A variants were associated with a large range of FV, yet similar in ARRP and USH2, despite hearing loss in USH2. The modified VALVVFQ-48 we evaluated is not ideal for detecting the impact of USH2A-associated retinal degenerations on activities of daily living.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinitis Pigmentosa
/
Usher Syndromes
Limits:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Am J Ophthalmol
Year:
2024
Document type:
Article